[Genetic heterogeneity and complexity of congenital heart defects].

Abstract

Congenital heart defects are the most common birth defects, they account for approximately one third of all cases. They are clinically heterogeneous, vary widely in severity, treatability and prognosis and may occur as part of multiple developmental disorders, such as chromosome aberrations, microdeletion syndromes and monogenic diseases, or as isolated defects. Syndromic forms account for 25-40%, isolated forms for 60-75% of all cases. With conventional cytogenetic and next-generation molecular genetic methods, numerous genetic alterations have been identified in evolutionarily highly conserved genes of transcriptional regulators, signaling molecules and structural proteins, which are critical to normal cardiogenesis, mostly in cases with syndromic congenital heart defects. On the other hand, the genetic cause can be detected only in around 11% of isolated heart defects. The survival rate and life quality of patients with congenital heart defects have improved significantly in the last decades thanks to the remarkable development of prenatal, postnatal diagnostics as well as of heart and thoracic surgery of cardiovascular diseases. Since the number of patients, living into adulthood and reproductive age, is constantly increasing, the better understanding of the genetics of congenital heart defects may be crucial for the diagnosis, prognosis and positive family planning of patients. Orv Hetil. 2018; 159(17): 661-670.

1 comentario:

I found out, that taking herbal treatment is the best to get rid of HPV as soon as i feel the symptoms of HPV is appearing, i took the healing process by contacting Dr LUCKY for natural treatment, it works wonders and amazingly. Ever since I had the herbal treatment i have not feel these virus anymore and my doc told me the virus is gone, i am glad i finally got cured out from this disease. Any HPV or herpes patients should also get in touch with this herbalist Dr to get ride of any disease forever his Email Address: is drluckyherbalcure@gmail.com or wahtsapp +2348154637647